List human proteins (protein id, gene label, disease mnemonic, disease id and omim id) which have disease annotation. UniProt SPARQL endpoint http://beta.sparql.uniprot.org/

gistfile1.txt

PREFIX rdf:<http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX skos:<http://www.w3.org/2004/02/skos/core#>
PREFIX owl:<http://www.w3.org/2002/07/owl#>
PREFIX bibo:<http://purl.org/ontology/bibo/>
PREFIX dc:<http://purl.org/dc/terms/>
PREFIX xsd:<http://www.w3.org/2001/XMLSchema#>
PREFIX up:<http://purl.uniprot.org/core/>
PREFIX rdfs:<http://www.w3.org/2000/01/rdf-schema#>

Select ?protein ?geneLabel ?dMnemonic ?disease ?omim
where
{
?protein  a              up:Protein ;
          up:organism    <http://purl.uniprot.org/taxonomy/9606> ; # Human
          up:annotation  ?diseaseA ;
          up:encodedBy   ?gene .
?gene     skos:prefLabel ?geneLabel .
?diseaseA a              up:Disease_Annotation ;                   # Disease
          up:disease     ?disease . 
?disease  up:mnemonic    ?dMnemonic;                               # Disease abbribation
          rdfs:seeAlso   ?omim.                                    # Link to something
?omim     up:database    <http://purl.uniprot.org/database/MIM> .  # something is in OMIM
}